BCL7A
BAF chromatin remodeling complex subunit BCL7A, the group of BAF complex
Basic information
Region (hg38): 12:122019421-122062044
Previous symbols: [ "BCL7" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL7A gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 4 | 4 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 0 | 0 |
Variants in BCL7A
This is a list of pathogenic ClinVar variants found in the BCL7A region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-122043960-G-A | Inborn genetic diseases | Uncertain significance (Aug 15, 2023) | ||
| 12-122044006-A-G | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | ||
| 12-122044033-A-G | Inborn genetic diseases | Uncertain significance (Jul 12, 2023) | ||
| 12-122054853-A-G | Inborn genetic diseases | Uncertain significance (Sep 30, 2021) | ||
| 12-122054933-C-G | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | ||
| 12-122054967-G-A | Inborn genetic diseases | Uncertain significance (Apr 27, 2023) | ||
| 12-122054976-T-C | Inborn genetic diseases | Uncertain significance (Nov 03, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BCL7A | protein_coding | protein_coding | ENST00000538010 | 6 | 42621 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0782 | 0.912 | 125718 | 0 | 7 | 125725 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.898 | 113 | 143 | 0.789 | 0.00000833 | 1519 |
| Missense in Polyphen | 31 | 50.615 | 0.61246 | 594 | ||
| Synonymous | -0.132 | 60 | 58.7 | 1.02 | 0.00000422 | 434 |
| Loss of Function | 2.25 | 4 | 12.6 | 0.317 | 7.34e-7 | 131 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000116 | 0.000116 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000882 | 0.00000879 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Disease
- DISEASE: Note=Chromosomal aberrations involving BCL7A may be a cause of B-cell non-Hodgkin lymphoma. Three-way translocation t(8;14;12)(q24.1;q32.3;q24.1) with MYC and with immunoglobulin gene regions. {ECO:0000269|PubMed:8605326}.;
- Pathway
- TNFalpha
(Consensus)
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- loftool
- 0.379
- rvis_EVS
- 0.08
- rvis_percentile_EVS
- 60.09
Haploinsufficiency Scores
- pHI
- 0.121
- hipred
- Y
- hipred_score
- 0.640
- ghis
- 0.461
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.405
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bcl7a
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of transcription, DNA-templated
- Cellular component
- cellular_component
- Molecular function
- molecular_function;protein binding